Psychiatric alert for psychiatrists ma-21.pub

Psychiatric Alert for Psychiatrists on Prader-Willi Syndrome
Janice L. Forster, MD—Child and Adolescent Psychiatrist and Linda M. Gourash, MD—Developmental Pediatrician
Reasons for Consultation and Referral
meal plan, restricted food access, a plan for daily activities,
Prader-Willi syndrome (PWS) is a rare chromosomal disorder
mandatory exercise, opportunities for sensory experience,
that is unique among all developmental disabilities. The core
low expressed emotion, and clear behavioral expectations
with reinforcement (emphasis on incentives and natural
(characterized by food seeking and lack of satiety), obesity,
cognitive impairment and behavior problems. Cognitive and
behavioral characteristics include: learning disabilities or
Consideration for Case Formulation
mental deficiency, cognitive inflexibility and perseveration,
Predisposing Factors: PWS is an imprinting disorder caused
repetitive speech and behaviors, oppositionality and
by the absence of expression of paternally derived genetic
tantrums, collecting and hoarding, and skin-picking. Most
material on chromosome 15q11-q13. The missing genes
parents and caregivers express more concern about the
appear to be responsible for regulating hypothalamic
impact of these behavioral features of PWS because they
function during development. Psychiatrists need to know
management challenges. Many families caring for children
characteristics and psychiatric symptoms can vary. Most
and adults with PWS will seek psychiatric treatment for
cases are due to a deletion of the PWS region on the paternal
problems such as mood lability, tantrums, skin picking and
chromosome 15, while 25-40% of cases are due to maternal
repetitive behaviors. Although the psychiatrist is usually
uniparental disomy (UPD). A subset of those individuals with
UPD shows autism spectrum disorder. As persons with UPD
psychiatrist’s role as a consultant to the treatment team is
approach adulthood, the risk for psychosis and mood
equally important. The multidisciplinary team may include
disorder increases. Family history of psychiatric illness
behavioral, educational, residential, and occupational
increases the risk for psychiatric disorder in both subtypes.
specialists. Most psychiatrists will not have treated more than
The major predisposing factors for both behavior problems
one or two cases with PWS. More important than previous
and psychiatric symptoms are stress sensitivity, cognitive
experience is a willingness to learn about the clinical features
impairments resulting in problem solving deficits, language
and management of PWS. Clinical experience with other
disorder, impaired social skills and poor coping strategies.
developmental disabilities is helpful, but it is important to
know that all persons with PWS display impaired judgment
Precipitating Factors: Psychiatric symptoms can be
regardless of IQ and verbal language skills.
precipitated by stress, and looking to the environment for
clues (e.g., loss, grief) is often helpful but not predictive.
Approach to Evaluation
Major precipitating factors for both psychiatric and behavioral
Patients with PWS will require more time for the initial
crises are changes in food access, expectations, structure,
evaluation. Often they have limited insight and social
consistency, level of support, supervision, and caretaker
judgment, and while they can share their thoughts and
attitude. Less frequent but important to rule out are drug
feelings, they can be unreliable historians. Regardless of the
interactions or side effects (e.g., the recent introduction of
patient’s age or IQ, parents and caregivers must serve as co-
gonadal steroid hormone therapy), sexual abuse or
informants to validate all aspects of the history (identification
exploitation, and undiagnosed sources of pain or medical
of problems, symptom severity and time course, level of
conditions. PWS persons have diminished pain sensitivity
impairment, family and medical histories) in the patient’s
absence. Patients must be supervised during this collateral
interview. As with other developmental disabilities, it is best
Perpetuating Factors: The following factors perpetuate
to take the lead from the parents as to how to communicate
psychiatric and behavioral disturbance: environmental
most effectively with the patient for the clinical interview and
mismanagement (inconsistent food access, unrealistic
mental status examination. It is essential to establish a
expectations, and inappropriate caretaker behavior), chronic
physician-parent (caretaker) partnership early in the process.
interpersonal problems, and secondary gain from repeated
In PWS, more than any other developmental disability, it is
hospitalizations or trips to the emergency room, involvement
essential for the psychiatrist to evaluate the environmental
of law enforcement, and inadvertent reinforcement with
structure of living. The following are the essential components
food. Intrinsic factors include chronic communication
for the management of syndromal behaviors: a scheduled
problems due to speech and language disorders,
Psychiatric Alert for Psychiatrists on Prader-Willi Syndrome (cont’d)
undiagnosed learning disabilities (especially NVLD) and
and they should accompany all medication trials.
unrecognized drug reactions (especially mood activation).
Psychotherapy: A relationship with an individual counselor is
Protective Factors: The following protective factors can
extremely helpful; goals include assessment of mood and
minimize the risk for psychiatric and behavioral symptoms:
insight, avoiding misunderstandings, supportive therapy for
environmental stability (predictability, consistency); food
losses and life changes and to assist in gaining the patient’s
security; deletion subtype; an even cognitive profile; easy-
interest and investment in behavior plans. Insight therapy to
going temperament; flexible and resourceful caretakers; well-
achieve behavioral change has limited benefit.
involvement with an informed family; opportunities to
Medication: If a person with PWS presents with the clinical
practice religious beliefs; and a good working relationship
signs of a psychiatric disorder, the use of appropriate classes
between the parent/guardian and residential provider.
of psychotropic medication is indicated. However the dose
response characteristics and side effect profile may be
Psychiatric Symptoms and Diagnosis in PWS
It is essential for the psychiatrist to be familiar with the core
features of PWS (310.1 Personality change secondary to a
General Guidelines: “START LOW; GO SLOW.” Some classes
medical condition- PWS) and to establish the individual’s
of medication are more likely to have side effects at standard
unique behavioral baseline in order to distinguish between
doses in persons with PWS, possibly due to differences in
an exacerbation of syndromal behaviors and the emergence
drug metabolism or neurosensitivity. Factors affecting
of psychiatric symptoms. Psychiatric symptoms may be
pharmacokinetics include: abnormal intestinal motility with
typical in presentation and indicate an underlying psychiatric
delayed gastric emptying that alters absorption; a diet that
illness such as psychosis, catatonia, delirium, narcolepsy,
may be rich in cruciferous vegetables inducing CYP1A2
mood and anxiety disorders. Sometimes affective and
metabolism; and greater fat mass at all BMIs which delays
psychotic symptoms may be missed due to unusual
premorbid social functioning or reduced ability to articulate
pharmacodynamic effects as well. Initiation of estrogen
changes in thought process or mood state. However,
replacement concurrent with SSRI treatment has caused
impairment is always indicated by a loss in level of
mood activation, and depot testosterone has been
functioning demonstrated by changes in self-care or
associated with behavioral activation. Individuals with PWS
grooming; sleep pattern; level of interest in eating, social
may not display the most typical medication side effects.
behavior, or usual preoccupations; and goal-directed
Nausea or appetite change is rarely reported, and weight
behavior including food seeking or repetitive behaviors.
gain is less common due to the close supervision of food
Perseveration and excessive, repetitive behaviors are
intake essential to the management of all persons with PWS.
common in PWS and should not be confused with true OCD.
When possible, judge the efficacy of one medication before
Severe skin picking may be a manifestation of Impulse
adding others. Parents and caregivers need to be informed
Control Disorder, NOS. ADHD may manifest as the
about expected benefits, possible adverse reactions, or
predominantly inattentive type. Central sleep apnea occurs
potential drug interactions as they monitor medication
independently of obesity, so excessive daytime sleepiness
efficacy. Most individuals with PWS are not competent to
may be related to a more complex differential diagnosis.
give informed consent for medication trials or operative
procedures; they may say they understand benefits and risks,
Interventions
but their judgment is impaired regardless of age or IQ. In
Environmental and Behavioral: If the patient presents with an
fact, the use of medication may carry secondary gain, and
exacerbation of syndromal behaviors, the most effective
individuals with PWS should never be responsible for
intervention is to optimize the environment augmented with
assessments or input from an applied behavior analyst may
Specific Medication Precautions: All classes of psychotropic
be helpful, but most likely the goal of intervention is to alter
medications have been used successfully to treat psychiatric
the environmental conditions rather than to expect the
symptoms in PWS. Some medications, despite their efficacy,
person with PWS to change. The individual’s unique
carry a higher risk for adverse effects. Persons with PWS
attributes such as personal interests and hobbies can be used
appear to be prone to mood activation with SSRI
in the service of treatment. Behavioral and environmental
medications, atypical neuroleptics and modafanil, and
interventions should be used for problematic syndromal
patients should be monitored closely for the appearance of
behaviors before psychotropic medications are considered,
increased anxiety, irritability, emotional reactivity, self
Psychiatric Alert for Psychiatrists on Prader-Willi Syndrome (cont’d)
injurious behavior, or increased goal directed behavior
Additional Resources
including food seeking or skin picking. In patient’s with
PWSA (USA) has an excellent database of archived materials,
PWS, extrapyramidal effects are more difficult to assess due
books, and manuals about PWS. The PWSA Clinical Advisory
to syndromal hypotonia. Symptoms of neuroleptic
Board can help address specific concerns, make referrals or
malignant syndrome may be atypical due to syndromal
hypotonia and hypothalamic abnormalities causing
preexisting temperature dysregulation and excessive
Psychiatric Primer is a more detailed resource available at
daytime sleepiness. The risk for hyponatremia appears to
www.pwsausa.org or www.pittsburghpartnership.com.
be increased when using SSRIs, atypical neuroleptics,
carbamazepine, and especially oxcarbazepine. Valproic acid
www.theNADD.org (excellent books, DVDs, and other
resources on diagnosing, treating and supporting people with
hyperammonemia. Anecdotal reports from parent surveys
intellectual disabilities and psychiatric or behavioral concerns)
suggest that SSRIs have not been helpful with skin picking,
food seeking and food preoccupation, but they have been
Fletcher, R., Loschen, E., Stavrakaki, C., & First, M. (Eds). (2007).
useful for some anxiety-related symptoms. Topiramate,
Diagnostic manual-intellectual disability: A textbook of diagnosis
sometimes helpful for skin picking, produces renal tubular
of mental disorders in persons with intellectual disability.
acidosis (hypochloremic acidosis) that is dose-dependent
Kingston, NY: NADD Press. (a new manual with adapted
and reversible. Like topiramate, a number of psychotropic
diagnostic criteria for making psychiatric diagnoses in people
agents are known to exacerbate osteoporosis, which is
Szymanski, L., & King, B.H. (1999). Summary of the practice
Hospitalization: Although inpatient hospitalization is
parameters for the assessment and treatment of children,
sometimes necessary, hospital units are not prepared for
adolescents and adults with mental retardation and co-morbid
the needs of the person with PWS. The nursing and dietary
mental disorders. Journal of the American Academy of Child and
staff will require very specific guidance on how to manage
the syndrome. The PWSA-USA can provide resources for managing food and other issues on hospital units. Ongoing Care: Families who seek psychiatric care should keep a diary of the outcome of every pharmacotherapy visit including the medication prescribed, dosage used, symptoms targeted and reasons for discontinuation. Regular appointments and follow-up calls during treatment are essential. Checklists and anecdotal records may track information about mood, sleep, behavior and thoughts between appointments. Patients with PWS should be expected to give feedback on how dose changes of medication affect their sleep, mood and behavior. Although the patient is a stakeholder in the process, change of any kind is stressful for them. Listening carefully to their feedback can help ensure better patient compliance with your recommendations and successful ongoing management.
Prader-Willi Syndrome Association (USA), 8588 Potter Park Drive, Suite 500, Sarasota, Florida 34238
800– 926-4797 * 941-312-0400 * Fax: 941-312-0142 * [email protected] * www.pwsausa.org

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